| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031360G>T | CA16609353 | MECP2 | c.468C>A (p.Asp156Glu) c.504C>A (p.Asp168Glu) c.65+36C>A c.468+36C>A (n.468+36C>A) n.2816C>A c.456C>A (p.Asp152Glu) c.432+36C>A (n.432+36C>A) c.189C>A (p.Asp63Glu) c.-129+36C>A (n.-129+36C>A) | ClinVar dbSNP |
| X | g.154031360G>A | CA232972 | MECP2 | c.468C>T (p.Asp156=) c.504C>T (p.Asp168=) c.65+36C>T c.468+36C>T (n.468+36C>T) n.2816C>T c.456C>T (p.Asp152=) c.432+36C>T (n.432+36C>T) c.189C>T (p.Asp63=) c.-129+36C>T (n.-129+36C>T) | ClinVar dbSNP |
| X | g.154031360G>C | CA202769 | MECP2 | c.468C>G (p.Asp156Glu) c.504C>G (p.Asp168Glu) c.65+36C>G c.468+36C>G (n.468+36C>G) n.2816C>G c.456C>G (p.Asp152Glu) c.432+36C>G (n.432+36C>G) c.189C>G (p.Asp63Glu) c.-129+36C>G (n.-129+36C>G) | ClinVar dbSNP |